Identity
HGNC
LOCATION
Xp11.21
LOCUSID
ALIAS
ALAS-E,ALASE,ANH1,ASB,SIDBA1,XLDPP,XLEPP,XLSA
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 212
MIM: 301300
HGNC: 397
Ensembl: ENSG00000158578
Variants:
dbSNP: 212
ClinVar: 212
TCGA: ENSG00000158578
COSMIC: ALAS2
RNA/Proteins
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34411431 | 2022 | A synonymous coding variant that alters ALAS2 splicing and causes X-linked sideroblastic anemia. | 1 |
| 34490613 | 2022 | Severe iron overload in a woman with homeostatic iron regulator (HFE) and a novel 5'-aminolevulinate synthase 2 (ALAS2) mutations: interactions of multiple genetic determinants. | 1 |
| 35637209 | 2022 | Congenital sideroblastic anemia model due to ALAS2 mutation is susceptible to ferroptosis. | 5 |
| 34411431 | 2022 | A synonymous coding variant that alters ALAS2 splicing and causes X-linked sideroblastic anemia. | 1 |
| 34490613 | 2022 | Severe iron overload in a woman with homeostatic iron regulator (HFE) and a novel 5'-aminolevulinate synthase 2 (ALAS2) mutations: interactions of multiple genetic determinants. | 1 |
| 35637209 | 2022 | Congenital sideroblastic anemia model due to ALAS2 mutation is susceptible to ferroptosis. | 5 |
| 33596641 | 2021 | A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria. | 12 |
| 33596641 | 2021 | A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria. | 12 |
| 31848684 | 2020 | Identification of a novel heterozygous ALAS2 mutation in a young Chinese female with X-linked sideroblastic anemia. | 1 |
| 32297424 | 2020 | Novel mutations in the ALAS2 gene from patients with X-linked sideroblastic anemia. | 1 |
| 32499479 | 2020 | Human aminolevulinate synthase structure reveals a eukaryotic-specific autoinhibitory loop regulating substrate binding and product release. | 16 |
| 33067979 | 2020 | [Knockdown of ALAS2 Affects Erythroid Differentiation by Down-regulating Mitophagy Receptor BNIP3L]. | 2 |
| 31848684 | 2020 | Identification of a novel heterozygous ALAS2 mutation in a young Chinese female with X-linked sideroblastic anemia. | 1 |
| 32297424 | 2020 | Novel mutations in the ALAS2 gene from patients with X-linked sideroblastic anemia. | 1 |
| 32499479 | 2020 | Human aminolevulinate synthase structure reveals a eukaryotic-specific autoinhibitory loop regulating substrate binding and product release. | 16 |
Citation
Dessen P
ALAS2 (5-aminolevulinate synthase 2)
Atlas Genet Cytogenet Oncol Haematol. 2009-05-01
Online version: http://atlasgeneticsoncology.org/gene/50876/alas2
